Details of Disease | DrugMAP

General Information of Disease (ID: DIS7VQTQ)

Disease Name	Agammaglobulinemia 9, autosomal recessive
Synonyms	AGM9
Definition	An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.
Disease Hierarchy	DISXMS80: Agammaglobulinemia DIS7VQTQ: Agammaglobulinemia 9, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0030519 UMLS CUI C5562059 OMIM ID 619693 MedGen ID 1794269

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A7	DTDQSAM	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC39A7	OTYMA1VB	Strong	Autosomal recessive	[1]
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References

1	Nephropathy and renal colic in patients treated with indinavir, ritonavir plus indinavir or ritonavir plus saquinavir. AIDS. 1999 Oct 22;13(15):2173-4. doi: 10.1097/00002030-199910220-00025.